Gene
recql4
- ID
- ZDB-GENE-091112-2
- Name
- RecQ helicase-like 4
- Symbol
- recql4 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity; nucleic acid binding activity; and zinc ion binding activity. Human ortholog(s) of this gene implicated in Baller-Gerold syndrome; Rothmund-Thomson syndrome; and rapadilino syndrome. Orthologous to human RECQL4 (RecQ like helicase 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Baller-Gerold syndrome | Alliance | Baller-Gerold syndrome | 218600 |
| rapadilino syndrome | Alliance | RAPADILINO syndrome | 266280 |
| Rothmund-Thomson syndrome | Alliance | Rothmund-Thomson syndrome, type 2 | 268400 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001650 | Helicase, C-terminal domain-like |
| Domain | IPR001878 | Zinc finger, CCHC-type |
| Domain | IPR011545 | DEAD/DEAH box helicase domain |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Family | IPR021110 | DNA replication/checkpoint protein |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036875 | Zinc finger, CCHC-type superfamily |
Domain Details Per Protein
| Protein | Length | DEAD/DEAH box helicase domain | DNA replication/checkpoint protein | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | Zinc finger, CCHC-type | Zinc finger, CCHC-type superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7F8R0
|
||||||||
|
UniProtKB:E7F2M7
|
1459 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance